Physician Education Materials

The clinical presentation of PI can be diverse. However, there are clinical findings at the level of different organs and systems requiring PI suspicion; these findings must be quickly recognized by specialty care physicians:

The FILL (Following infants with low lymphocytes) study developed as an offshoot and direct result of newborn screening for SCID and T cell lymphopenia (NBS SCID) in the United States. This study intends to enroll infants who are initially identified during newborn screening (abnormal TREC result on SCID screening) and confirmed by a physician to have lymphopenia. The study will collect data on 200 infants who are enrolled by April 1, 2018. The FILL database was created and is maintained by the USIDNET, through a pilot grant provided by the Jeffrey Modell Foundation to the Clinical Immunology Society (CIS). Patient data can be entered into the FILL Database either by enrollment through an USIDNET center, or through direct physician referral to USIDNET. All patients enrolled in the study have to be consented through an IRB protocol.

We strongly urge you to enroll your patients with T cell lymphopenia identified by SCID newborn screening in the FILL study so that there is evidence-based data to better understand, follow and manage infants with lymphopenia.

Clinical Trial Opportunity for Patients with Chronic Mucocutaneous CandidiasisChronic Mucocutaneous Candidiasis often results from an underlying immune deficiency that leads to abnormalities in a person’s control of fungal infections such as candida. Investigators at NIAID are seeking people with chronic mucocutaneous candidiasis (oropharyngeal, esophageal or vulvovaginal candidiasis) that are refractory or intolerant to standard non-intravenous therapies to participate in a clinical research trial. For additional information please contact Dr. Alexandra Freeman (freemaal@mail.nih.gov) or see https://clinicaltrials.gov/ct2/show/NCT02629419.

WHIM Clinical Study Seek Participants, Research Program will Assess the Safety and Efficacy of a CXCR4 Antagonist

A Phase 2/3 clinical study in patients with WHIM syndrome (Warts, Hypogammaglobulinemia, Infections and Myelokathexis) with an oral CXCR4 antagonist targeting the underlying cause of WHIM is actively recruiting adult patients. The study is being conducted at three Jeffrey Modell Foundation Centers in Seattle, Michigan and Florida. Reasonable travel, lodging and meals costs will be provided for those who are eligible and willing to participate. After completing the study participants may be eligible for continued access to study drug.

The study is registered on ClinicalTrials.gov under Identifier: NCT030005327, or by clicking here.

Most of these patients have chronic neutropenia and may have a PI with unknown cause. The study sponsor, X4 Pharmaceuticals, is offering free genetic testing of the CXCR4 gene for those who meet certain criteria to rule in or out WHIM.

If you have patients that may be eligible for referral to the study or if you are interested in having any patients suspected to have WHIM genetically tested then please contact X4 Pharmaceuticals (patientinfo@X4pharma.com) or contact Ramsey Johnson in Clinical Operations (857-529-8308).

The FILL (Following infants with low lymphocytes)

This study developed as an offshoot and direct result of newborn screening for SCID and T cell lymphopenia (NBS SCID) in the United States. This study intends to enroll infants who are initially identified during newborn screening (abnormal TREC result on SCID screening) and confirmed by a physician to have lymphopenia. The study will collect data on 200 infants who are enrolled by April 1, 2018. The FILL database was created and is maintained by the USIDNET, through a pilot grant provided by the Jeffrey Modell Foundation to the Clinical Immunology Society (CIS). Patient data can be entered into the FILL Database either by enrollment through an USIDNET center, or through direct physician referral to USIDNET. All patients enrolled in the study have to be consented through an IRB protocol.

We strongly urge you to enroll your patients with T cell lymphopenia identified by SCID newborn screening in the FILL study so that there is evidence-based data to better understand, follow and manage infants with lymphopenia.

Chronic Mucocutaneous Candidiasis often results from an underlying immune deficiency that leads to abnormalities in a person’s control of fungal infections such as candida. Investigators at NIAID are seeking people with chronic mucocutaneous candidiasis (oropharyngeal, esophageal or vulvovaginal candidiasis) that are refractory or intolerant to standard non-intravenous therapies to participate in a clinical research trial. For additional information please contact Dr. Alexandra Freeman (freemaal@mail.nih.gov) or see https://clinicaltrials.gov/ct2/show/NCT02629419.